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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF4A

Variant:p.R245P

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HNF4A

NM_175914.5:p.R245P

hg38:chr20:44419784 G>C

Associated Papers

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.

Apperley L et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

30730840 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."